Variant report

Variant	rs7302549
Chromosome Location	chr12:29621376-29621377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11050171	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs11050234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050237	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs11050242	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs11050243	0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs11050247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11609415	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11610542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610605	0.82[ASN][1000 genomes]
rs11611065	1.00[ASN][1000 genomes]
rs11611499	1.00[ASN][1000 genomes]
rs11611830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11613142	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11614232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614288	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11614744	0.82[ASN][1000 genomes]
rs11829375	0.82[ASN][1000 genomes]
rs11831164	0.82[ASN][1000 genomes]
rs11831165	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs11833098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1369899	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1436314	0.82[ASN][1000 genomes]
rs2042512	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2288127	0.86[CHB][hapmap]
rs28560462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34137040	0.82[ASN][1000 genomes]
rs35198374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35494573	0.98[ASN][1000 genomes]
rs3741751	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs3764951	0.86[CHB][hapmap]
rs3782512	0.86[CHB][hapmap];1.00[MEX][hapmap]
rs4280037	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[MEX][hapmap]
rs56179940	1.00[ASN][1000 genomes]
rs56241141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58171188	0.96[ASN][1000 genomes]
rs58359809	1.00[ASN][1000 genomes]
rs59273552	1.00[ASN][1000 genomes]
rs6487820	0.93[EUR][1000 genomes]
rs6487826	1.00[ASN][1000 genomes]
rs6487827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138160	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7138552	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7139305	0.82[CEU][hapmap]
rs7294517	0.86[CHB][hapmap]
rs7296302	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs7296554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7297234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297659	0.82[ASN][1000 genomes]
rs7301354	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7302425	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7302700	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7306407	0.88[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs7309876	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7311051	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7311329	0.85[ASN][1000 genomes]
rs7312547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312776	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7313307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276833	0.82[ASN][1000 genomes]
rs73276902	0.82[ASN][1000 genomes]
rs73278706	0.82[ASN][1000 genomes]
rs73278734	1.00[ASN][1000 genomes]
rs73278736	1.00[ASN][1000 genomes]
rs73278740	1.00[ASN][1000 genomes]
rs7489238	1.00[ASN][1000 genomes]
rs7953181	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7953237	0.88[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs7964648	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs7964728	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs7964979	0.88[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs7965132	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs7965185	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs7967676	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7975356	0.88[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs7977826	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7978026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs878837	0.88[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs880267	0.88[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
3	chr12:29598400-29657400	Weak transcription	HSMM	muscle
4	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
6	chr12:29604200-29655400	Weak transcription	Adipose Nuclei	Adipose
7	chr12:29608200-29622000	Weak transcription	Brain Anterior Caudate	brain
8	chr12:29608600-29624800	Weak transcription	Pancreas	Pancrea
9	chr12:29608800-29627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:29609400-29631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:29612800-29655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:29613600-29655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:29613600-29666800	Weak transcription	Spleen	Spleen
14	chr12:29614400-29622200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:29614600-29658000	Weak transcription	HSMMtube	muscle
16	chr12:29615000-29624600	Weak transcription	Left Ventricle	heart
17	chr12:29616400-29659400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:29617400-29657400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:29618200-29642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:29621000-29622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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